Hughes Syndrome is a disease that has only been recognised for 20 years but it is thought to be responsible for up to 1 in 5 cases of recurrent miscarriage. You may never have heard of it as it is greatly under diagnosed but it is a condition that is easily treated.
What is Hughes Syndrome?
Hughes syndrome, also known as antiphospholipid syndrome (APS) or ‘sticky blood’ is a disorder characterised by blood clotting, both in the arteries and veins. It was first described by Dr Graham Hughes in 1983 after he noted that some of his Lupus patients had a tendency to blood clots (thrombosis).
It is an autoimmune disease which means that the immune system is fighting the body itself instead of attacking viruses and bacterias. Anti-phospholipid antibodies appear to alter the ‘phospholipid’ skin that lines the blood vessels of organs.
According to the Hughes Syndrome Foundation, as many as 1 in 500 people could have the condition, many without even knowing it. One specialist, Dr. Vilardell, says, “There are two major ‘new’ diseases of the twentieth century – AIDS and Hughes Syndrome.”
What causes it?
Hughes Syndrome is not infectious and cannot be caught. The exact causes are still unknown although it is thought that factors which attribute to thrombosis, such as smoking, immobility and the contraceptive Pill, can also trigger the condition.
There is also some suggestion that the syndrome could run in families and there is often a family history of lupus, blood clots or miscarriages.
It can affect both men and women of all ages and races. However, the majority of people with Hughes Syndrome are women.
What are the signs and symptoms?
For many people there are no obvious symptoms of the condition and the first many people know of the condition is following recurrent miscarriages.
Other symptoms include;
- Headaches or migraines. These often occur frequently in adolescence, disappearing during your 20s then returning with a vengeance in your 30s or 40s.
- Thrombosis (blood clots). These can happen in any part of the body, although more commonly in the legs (DVT). There has been much media coverage of DVT after long haul flights and also in women on the Pill. Though the reasons are not fully known, it is believed that Hughes Syndrome could be to blame for a percentage of these.
- Skin rashes. Also known as livedo reticulavis, this shows up predominantly on the knees. It is a blotchy rash that does not blanch (go white when it’s pressed.) A more familiar term is ‘corned beef skin’.
- Memory loss. Due to the ‘sticky’ nature of the blood, the brain can sometimes be starved as the blood cannot get through to all the tiny veins and capillaries. This can lead to forgetfulness and momentary memory lapses. These symptoms almost disappear once Hughes Syndrome has been diagnosed and treated.
- Multiple sclerosis. Many people are diagnosed with MS because the brain reacts to the ‘sticky’ blood by causing pins and needles, giddiness and balance disorders which are all symptoms of MS. However, for some people the diagnosis actually that of Hughes.
- Recurrent miscarriages. Many women get no other manifestation of Hughes Syndrome other than recurrent miscarriage, sometimes very late in pregnancy.
A treatable cause of recurrent miscarriage
Hughes Syndrome is the most common treatable cause of recurrent miscarriage, present in about 1 in 5 cases. It causes complications in the blood supply to the unborn baby.
Because of the ‘sticky’ blood, clotting may occur in the placenta. The blood cannot get through the delicate small blood vessels resulting in the baby’s blood supply being cut off. This in turn can lead to miscarriage and is most common late in the second trimester.
Women with Hughes Syndrome can be treated quite simply with aspirin, or occasionally heparin. Both work by thinning the blood to prevent clotting. For women who are treated the successful pregnancy rate is up to 80 per cent, compared to less than 20 per cent for women who have not been diagnosed. Dr Graham Hughes refers to this as ‘the magic’.
GP Dr Rory Simmons says, “In women with a history of recurrent miscarriage, it is usual practice to refer the patient for a specialist opinion (i.e. obstetrician). The truth is that most GPs will have heard of the condition (either by name, or by it’s relationship to Lupus) but few will initiate investigations themselves.”
How is it diagnosed?
A simple blood test can detect the antiphospholipid antibodies while other blood tests can check for underlying conditions, such as lupus.
Two blood tests are usually performed.
1. Anticardiolipin Antibodies (aCL) which looks for the antiphospholipid antibodies and is positive in 80 per cent of cases.
2. Lupus Anticoagulant, which despite its confusing name, is a clotting test and does not test for Lupus.
By far the most important test is the aCL, although a diagnosis of Hughes would not be made without first getting a person’s history. This test would also need to be repeated after 6 to 8 weeks to confirm the diagnosis as levels of antiphospholipids can fluctuate.
Find out more
If you are concerned that you might be suffering from APS , the Hughes Syndrome
Foundation can provide support and advice. Visit their website www.hughes-syndrome.org/index.html